Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The concept of developmental disabilities as a group of problems with origins in the stages of human development has been broadened by recent legislation to include mental retardation, cerebral palsy, epilepsy, autism, dyslexia, and other neurological impairments. The debate continues on whether or not specific disability categories should be named, but the functional aspects of the problems seem to be generally accepted. Potential implications of this legislation for occupational therapy are discussed in this paper. Numerous programs supported by a variety of governmental units and private agencies will need qualified professionals. This paper concludes with a brief list of six developmental disability programs of the University of Michigan University Affiliated Facility and an outline of three models of field placement in developmental disabilities for occupational therapy students.
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PMID:Developmental disabilities. 7 85

A total of 600 handicapped patients had dental rehabilitation under general anesthesia during an eight-year period. Handicaps included mental retardation, cerebral palsy, Down syndrome, seizure disorders, autism, cystic fibrosis, osteogenesis imperfecta, and muscular dystrophy. No significant complications developed in the majority of patients. This is attributed to thorough preoperative evaluation, appropriate anesthetic management, and vigilant postoperative observation.
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PMID:Complications related to the administration of general anesthesia in 600 developmentally disabled dental patients. 15 47

Folk concepts for mental disorder were studied among rural Lao people. While predominatly inferring etiology (e.g. spirit-caused disorder), certain terms also emphasized particular descriptive psychopathology or behavioral abnormality. Preventive strategies were stressed for insanity due to "excessive worry' or "broken taboo'. These broad folk categories of disorder bore considerable similarity to some psychiatric and neurologic categories within medicine. These includes psychosis, mania, neurosis, organic brain syndrome, mental retardation, cerebral palsy, epilepsy, and childhood autism. Lao folk terms for mental disorder also closely resembled those of other southern Asian cultures, although illiterate tribal peoples appeared to have fewer terms than literate peasant peoples. Folk terms from more distant regions had broad similarity to those of southeast Asia, but lacked the specificity found within the region.
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PMID:Folk concepts of mental disorder among the Lao: continuities with similar concepts in other cultures and in psychiatry. 52 21

The Lesch--Nyhan syndrome is a heritable disorder of the metabolism of uric acid in which behavioral manifestations are prominent and among the most provocative. The mutated or variant gene that determines this disorder is carried on the X chromosome. The disease is expressed exclusively in males. The molecular expression of the abnormal gene is in the completely defective activity of the enzyme hypoxanthine guanine phosphoribosyl transferase. As a result these patients overproduce uric acid and may develop early in life many of the clinical findings we associate with gout. They have in addition a variety of neurological abnormalities including mental retardation, spastic cerebral palsy, and involuntary, choreoathetoid movements. Involved patients have unusual, compulsive, aggressive behavior. Its most prominent but by no means exclusive feature is self-mutilation. The central feature in the management of this behavior is physical restraint. A number of practical procedures have been learned which facilitate the care and feeding of these patients. Promising new findings suggest that behavioral modification using extinction techniques and pharmacologic methods utilizing agents designed to increase the effective cerebral content of serotonin may each have a place in the management of behavior in this syndrome.
J Autism Child Schizophr 1976 Sep
PMID:Behavior in the Lesch--Nyhan syndrome. 108 51

More than 30,000 Norwegians are mentally retarded and about 50% of them are severely retarded and often multihandicapped. Before 1975 the majority of the severely retarded resided in large institutions. New legislation has led to an increasing emphasis on decentralization and integration in local communities. Mental retardation is caused by prenatal brain damage in 90% of the cases. Chromosomal aberrations like Down and Fragile-X syndromes are the most common causes. A high proportion of individuals with autism, cerebral palsy, epilepsy and sensory defects are mentally retarded, and the most common additional diagnoses in mental retardation are speech defects, epilepsy, cerebral palsy, congenital heart disease, sight and hearing impairment and hydrocephalus. Almost 1/3 of the mentally retarded adults have developed psychiatric disturbances. Families with mentally retarded children are affected emotionally, socially and economically, and the burden increases as the mentally retarded individual grows older.
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PMID:[The mentally retarded dental patients. Who are they?]. 183 92

From a population-based series of children with Infantile Hydrocephalus (IH) 69 patients (mean age 11.7 years) were examined with respect to the occurrence of autistic symptoms. Autistic symptomatology was evaluated according to a modified short Swedish version of the so-called Autism Behavior Checklist. Sixteen of the 69 IH children (23%) reached a score which was considered indicative of autistic symptoms (AS) in the child. This group was compared with the remaining 53 IH children without autistic symptoms (non AS). Significant differences were found between these two groups with respect to aetiological and clinical data. In the AS group 44% were born preterm as compared to 9% in the non AS group. CT scan showed major abnormalities in 64% of the AS children while this was present in 28% in the non AS group. The occurrence of major neuroimpairments--epilepsy, mental retardation and cerebral palsy--was 50%, 88% and 50% in the AS group as compared to 9%, 23% and 19% respectively in the non AS group. It was concluded that the more severe the brain damage in children with IH the more likely that autistic symptomatology would ensue. This implies that specific neuropsychiatric services to these families are required.
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PMID:Autistic symptoms in children with infantile hydrocephalus. 205 95

One hundred and thirty representative cases of mentally retarded children in Sweden were surveyed in order to detect reductions in optimality in the prenatal, perinatal and postnatal periods. There was a small but statistically significant reduction in optimality, particularly pertaining to the prenatal and neonatal periods. It is of interest, however, that these mentally retarded children had smaller reductions of optimality than did children with cerebral palsy or infantile autism.
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PMID:Mental retardation in urban children: a population study of reduced optimality in the pre-, peri- and neonatal periods. 213 2

The prevalence, causal origin of and impairments associated with severe mental retardation (SMR) were investigated among all school-age children (six to 13 years) living in the city of Bologna, Italy. 90 children (57 boys, 33 girls) with IQs less than or equal to 50 were identified. The prevalence of SMR was 4.2 per 1000 for males, 2.5 per 1000 for females and 3.4 per 1000 for both sexes. Causal origin was prenatal for 33.3 per cent, perinatal for 14.4 per cent, combined pre- and perinatal for 5.6 per cent and postnatal for 13.3 per cent. Another 12.3 per cent of the children with IQs less than or equal to 50 had autism or childhood psychosis, while there was no evident cause of mental retardation for the remaining 21.1 per cent. 50 per cent had at least one associated physical or neurological impairment other than mental retardation, with epilepsy and cerebral palsy predominating.
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PMID:An epidemiological study on severe mental retardation among schoolchildren in Bologna, Italy. 225 87

Guidelines for providing therapy intervention for persons with Rett syndrome are presented according to the four stages of the disease. In describing various aspects of Rett syndrome the differences between Rett syndrome, cerebral palsy, and autism are discussed. The role of the therapist in maintaining functional skills is emphasized. The changing nature of the therapist's involvement in relation to the progression of the disease is briefly addressed.
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PMID:The therapist's role in the management of girls with Rett syndrome. 305 86

This is a presentation and discussion of clinical and laboratory data obtained on 13 girls with Rett syndrome, a progressive neurological disorder. The condition is thought to be far more prevalent than earlier reported. Family history in one patient showed presence of abnormal hand movements, increasing spasticity and psychomotor retardation in a paternal great grandaunt who died at 7 years. In the absence of chromosomal or biochemical markers, the characteristic disorder of hand movements can be used to distinguish this entity from other mental retardation, cerebral palsy and autism conditions. This report addresses the uniformity of clinical expression and highlights the differences between autism and Rett syndrome. Precocious puberty and respiratory alkalosis were not found in our patients. Feeding disorders were commonly present, and are often difficult to manage. The importance of diagnosis is emphasized as it influences long term management.
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PMID:Rett syndrome: studies of 13 affected girls. 308 8


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